Congenital anomaly of visual system   127329003


SNOMED code127329003
nameCongenital anomaly of visual system
date introduced2002-01-31
fully specified name(s)Congenital anomaly of visual system (disorder)
synonymsCongenital anomaly of visual system
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteVisual structure   49549006
  • 14q22q23 microdeletion syndrome   771439009
  • Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004
  • Congenital achiasma   734031008
  • Congenital anomaly of eye   19416009
  • Congenital anomaly of ocular adnexa   128327004
  • Congenital anomaly of optic nerve   95502000
  • Congenital anomaly of orbit   54873004
  • Congenital blindness   95486002
  • Congenital malformation of eye, ear and neck   253204009
  • Congenital strabismus   95509009
  • Congenital vascular anomaly of eye   2818004
  • Didymosis aplasticosebacea   774209001
  • Heide syndrome   716189005
  • Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome   1217371005
  • Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome   774102003
  • Karsch Neugebauer syndrome   722032005
  • MOMO syndrome   724137002
  • Ocular motor apraxia Cogan type   405809000
  • Oculogastrointestinal muscular dystrophy   722060007
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital anomaly of visual system   127329003

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